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63 results

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Page 1
Generation of induced pluripotent stem cells (CSSi017-A)(12862) from an ALS patient carrying a repeat expansion in the C9orf72 gene.
Ruotolo G, D'Anzi A, Casamassa A, Mazzoni M, Ferrari D, Lombardi I, Carletti RM, D'Asdia C, Torrente I, Frezza K, Lattante S, Sabatelli M, Pennuto M, Vescovi AL, Rosati J. Ruotolo G, et al. Among authors: torrente i. Stem Cell Res. 2024 Jun;77:103412. doi: 10.1016/j.scr.2024.103412. Epub 2024 Apr 10. Stem Cell Res. 2024. PMID: 38613988 Free article.
Generation and characterization of CSSi016-A (9938) human pluripotent stem cell line carrying two biallelic variants in MTMR5/SBF1 gene resulting in a case of severe CMT4B3.
Maria Turco E, Maria Giada Giovenale A, Rotundo G, Mazzoni M, Zanfardino P, Frezza K, Torrente I, Mary Carletti R, Damiani D, Santorelli FM, Luigi Vescovi A, Petruzzella V, Rosati J. Maria Turco E, et al. Among authors: torrente i. Stem Cell Res. 2022 Dec;65:102946. doi: 10.1016/j.scr.2022.102946. Epub 2022 Oct 17. Stem Cell Res. 2022. PMID: 36272304 Free article.
Generation of an induced pluripotent stem cell line CSSi015-A (9553), carrying a point mutation c.2915C > T in the human calcium sensing receptor (CasR) gene.
Rotundo G, Turco EM, Ruotolo G, Torrente I, Candido O, Lopez G, Ferrari D, Caputi C, Mastrangelo M, Pisani F, Gelati M, Guarnieri V, Vescovi AL, Rosati J. Rotundo G, et al. Among authors: torrente i. Stem Cell Res. 2023 Mar;67:103023. doi: 10.1016/j.scr.2023.103023. Epub 2023 Jan 7. Stem Cell Res. 2023. PMID: 36638628 Free article.
Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A).
Casamassa A, Rotundo G, Ceresoni C, Turco EM, Torrente I, Candido O, Nicita F, Tonduti D, Bertini E, Marano M, Ferrari D, Cereda C, Pennuto M, Vescovi AL, Carelli S, Rosati J. Casamassa A, et al. Among authors: torrente i. Stem Cell Res. 2024 Aug;78:103468. doi: 10.1016/j.scr.2024.103468. Epub 2024 Jun 6. Stem Cell Res. 2024. PMID: 38852424 Free article.
Mortality reduction in older COVID-19-patients hospitalized in Spain during the second pandemic wave from the SEMI-COVID-19 Registry.
Casas-Rojo JM, Antón-Santos JM, Millán-Núñez-Cortés J, Gómez-Huelgas R, Ramos-Rincón JM, Rubio-Rivas M, Corrales-González MÁ, Fernández-Madera-Martínez MR, Beato-Pérez JL, Arnalich-Fernández F, Gállego-Lezaun C, Pérez-Martínez P, Molinos-Castro S, Tung-Chen Y, Madrazo M, Méndez-Bailón M, Monge-Monge D, García-García GM, García-Fenoll R, Gilabert N, Fuerte-Martínez R, Contreras-Sánchez M, Rhyman N, Peris-García J, Lumbreras-Bermejo C; SEMI-COVID-19 Network. Casas-Rojo JM, et al. Sci Rep. 2023 Oct 18;13(1):17731. doi: 10.1038/s41598-023-42735-5. Sci Rep. 2023. PMID: 37853011 Free PMC article.
Validation of the RIM Score-COVID in the Spanish SEMI-COVID-19 Registry.
Ramos-Rincón JM, Ventura PS, Casas-Rojo JM, Mauri M, Bermejo CL, de Latierro AO, Rubio-Rivas M, Mérida-Rodrigo L, Pérez-Casado L, Barrientos-Guerrero M, Giner-Galvañ V, Gallego-Lezaun C, Milián AH, Manzano L, Blázquez-Encinar JC, Solís-Marquínez MN, García MG, Lobo-García J, Valente VA, Roig-Martí C, León-Téllez M, Tellería-Gómez P, González-Juárez MJ, Gómez-Huelgas R, López-Escobar A; SEMI-COVID-19 Network. Ramos-Rincón JM, et al. Intern Emerg Med. 2023 Apr;18(3):907-915. doi: 10.1007/s11739-023-03200-3. Epub 2023 Jan 21. Intern Emerg Med. 2023. PMID: 36680737 Free PMC article.
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome.
Piceci-Sparascio F, Micale L, Torres B, Guida V, Consoli F, Torrente I, Onori A, Frustaci E, D'Asdia MC, Petrizzelli F, Bernardini L, Mancini C, Soli F, Cocciadiferro D, Guadagnolo D, Mastromoro G, Putotto C, Fontana F, Brunetti-Pierri N, Novelli A, Pizzuti A, Marino B, Digilio MC, Mazza T, Dallapiccola B, Ruiz-Perez VL, Tartaglia M, Castori M, De Luca A. Piceci-Sparascio F, et al. Among authors: torrente i. Eur J Hum Genet. 2023 Apr;31(4):479-484. doi: 10.1038/s41431-022-01276-7. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599940 Free PMC article.
Generation of an induced pluripotent stem cells line, CSSi014-A 9407, carrying the variant c.479C>T in the human iduronate 2-sulfatase (hIDS) gene.
Casamassa A, Zanetti A, Ferrari D, Lombardi I, Galluzzi G, D'Avanzo F, Cipressa G, Bertozzi A, Torrente I, Vescovi AL, Tomanin R, Rosati J. Casamassa A, et al. Among authors: torrente i. Stem Cell Res. 2022 Aug;63:102846. doi: 10.1016/j.scr.2022.102846. Epub 2022 Jun 21. Stem Cell Res. 2022. PMID: 35759972 Free article.
Production of CSSi013-A (9360) iPSC line from an asymptomatic subject carrying an heterozygous mutation in TDP-43 protein.
D'Anzi A, Perciballi E, Ruotolo G, Ferrari D, Notaro A, Lombardi I, Gelati M, Frezza K, Bernardini L, Torrente I, De Luca A, La Bella V, Luigi Vescovi A, Rosati J. D'Anzi A, et al. Among authors: torrente i. Stem Cell Res. 2022 Aug;63:102835. doi: 10.1016/j.scr.2022.102835. Epub 2022 Jun 6. Stem Cell Res. 2022. PMID: 35714448 Free article.
63 results